Helping you navigate the rare disease labyrinth
Although rare genetic disorders are individually uncommon, estimates suggest that several thousand distinct rare disorders exist. As a result, approximately 1 in 20 individuals are affected by a rare disease. Whole exome sequencing provides researchers insight into these disorders by shining a light on the roughly 20,000 protein-coding genes in the human genome.
To advance disease research, we have developed an optimized exome sequencing approach that leverages hybrid capture technology for highly sensitive variant calling of targets from >500 genes. Access the previously inaccessible with ease using our QIAseq Human Exome solution. This approach seamlessly integrates with QIAGEN CLC Genomics Workbench for rapid variant calling and QCI Interpret Translational for accurate variant interpretation and disease-specific insights – freeing you up from extensive literature searches and analysis. Plus, this approach saves 50% on sequencing costs per sample and reduces overall turnaround time from sample to insights.
Nguengang Wakap, S. et al. (2020) Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur. J. Hum. Genet. 28, 165–173.
Wise A. L., et al. Genomic medicine for undiagnosed diseases. (2019) Lancet. 394, 533-540.
Global Genes Rare Facts https://globalgenes.org/rare-disease-facts/
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Single-day, scalable and automation-compatible workflow
The QIAseq Human Exome Kit, together with the QIAseq FX DNA Library Kit, can be used for generating sequencing-ready enriched human exome libraries from human gDNA in a single day.
